MCID: PHC018
MIFTS: 32

Phace Association

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Phace Association

MalaCards integrated aliases for Phace Association:

Name: Phace Association 57 75 72
Pascual-Castroviejo Syndrome Type 2 59
Aortic Aneurysm, Giant Congenital 57
Phaces Association 57
Phace Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
phace syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities
87% patients are female


HPO:

32
phace association:
Inheritance sporadic x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 606519
ICD10 via Orphanet 34 Q28.8
UMLS via Orphanet 73 C1847874 C2242617
Orphanet 59 ORPHA42775
MedGen 42 C1847874
UMLS 72 C1847874

Summaries for Phace Association

OMIM : 57 PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011). (606519)

MalaCards based summary : Phace Association, also known as pascual-castroviejo syndrome type 2, is related to phace syndrome and sternal cleft, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). The drug Dermatologic Agents has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are seizures and global developmental delay

Wikipedia : 75 PHACE Syndrome is a cutaneous condition characterized by multiple congenital abnormalities. The mnemonic... more...

Related Diseases for Phace Association

Diseases related to Phace Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 phace syndrome 12.0
2 sternal cleft 10.4
3 hemangioma 10.3
4 congenital hypothyroidism 10.3
5 microphthalmia 10.3
6 posterior fossa malformation 10.3
7 coarctation of aorta 10.2
8 subglottic angioma 10.2
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
10 cerebral malformation 10.2
11 horner's syndrome 10.1
12 heart septal defect 10.1
13 capillary hemangioma 10.1
14 pituitary gland disease 10.1
15 glial tumor 10.1
16 cerebral cavernous malformations 10.0
17 capillary malformations, congenital 10.0
18 retinoblastoma 10.0
19 strabismus 10.0
20 tetralogy of fallot 10.0
21 persistent hyperplastic primary vitreous, autosomal recessive 10.0
22 moyamoya disease 1 10.0
23 ptosis 10.0
24 hypogonadotropic hypogonadism 10.0
25 sensorineural hearing loss 10.0
26 pre-eclampsia 10.0
27 hydrocephalus 10.0
28 placenta praevia 10.0
29 arteriovenous malformation 10.0
30 eclampsia 10.0
31 ventricular septal defect 10.0
32 hypogonadism 10.0
33 transient cerebral ischemia 10.0
34 familial retinoblastoma 10.0
35 hypogonadotropism 10.0
36 cataract 10.0
37 mechanical strabismus 10.0
38 exophthalmos 10.0
39 aortic arch interruption 10.0
40 congenital hydrocephalus 10.0
41 dandy-walker complex 10.0
42 glioma 10.0
43 dysphagia 10.0
44 ectopia cordis 10.0
45 congenital oculomotor nerve palsy 10.0
46 hypopituitarism 10.0
47 aortic coarctation 10.0
48 coloboma of macula 9.9
49 lacrimal duct defect 9.9
50 marfan syndrome 9.9

Graphical network of the top 20 diseases related to Phace Association:



Diseases related to Phace Association

Symptoms & Phenotypes for Phace Association

Human phenotypes related to Phace Association:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 Occasional (29-5%) HP:0001250
2 global developmental delay 59 32 Occasional (29-5%) HP:0001263
3 coarctation of aorta 59 32 Occasional (29-5%) HP:0001680
4 optic nerve hypoplasia 59 32 Frequent (79-30%) HP:0000609
5 cerebellar hypoplasia 59 32 Occasional (29-5%) HP:0001321
6 microphthalmia 59 32 Frequent (79-30%) HP:0000568
7 dandy-walker malformation 59 32 Frequent (79-30%) HP:0001305
8 agenesis of corpus callosum 59 Occasional (29-5%)
9 ptosis 59 Occasional (29-5%)
10 hypothyroidism 59 Occasional (29-5%)
11 muscular hypotonia 59 Occasional (29-5%)
12 cataract 59 Occasional (29-5%)
13 microcephaly 59 Occasional (29-5%)
14 optic atrophy 32 HP:0000648
15 hemiplegia/hemiparesis 59 Occasional (29-5%)
16 strabismus 59 Occasional (29-5%)
17 patent ductus arteriosus 32 HP:0001643
18 migraine 32 HP:0002076
19 heterochromia iridis 59 Occasional (29-5%)
20 glaucoma 59 Frequent (79-30%)
21 capillary hemangioma 59 Occasional (29-5%)
22 visceral angiomatosis 59 Occasional (29-5%)
23 iris coloboma 59 Occasional (29-5%)
24 tetralogy of fallot 59 Occasional (29-5%)
25 abnormality of the cardiac septa 59 Frequent (79-30%)
26 ventricular septal defect 32 HP:0001629
27 amblyopia 59 Occasional (29-5%)
28 abnormality of the carotid arteries 59 Occasional (29-5%)
29 arterial stenosis 32 HP:0100545
30 sclerocornea 59 Occasional (29-5%)
31 abnormality of the sternum 59 Occasional (29-5%)
32 abnormal heart morphology 59 Frequent (79-30%)
33 aortic root aneurysm 59 Occasional (29-5%)
34 cerebral arteriovenous malformation 59 Frequent (79-30%)
35 abnormal cerebral artery morphology 59 Very frequent (99-80%)
36 congenital hypothyroidism 32 HP:0000851
37 horner syndrome 32 HP:0002277
38 aortic aneurysm 32 HP:0004942
39 cavernous hemangioma of the face 32 HP:0007486
40 lens coloboma 59 Occasional (29-5%)
41 ectopic thyroid 59 Occasional (29-5%)
42 retinal vascular malformation 59 Occasional (29-5%)
43 abnormality of the ocular region 59 Occasional (29-5%)
44 developmental cataract 32 HP:0000519
45 anomalous branches of internal carotid artery 32 HP:0005314
46 plaque-like facial hemangioma 32 HP:0007434
47 increased retinal vascularity 32 HP:0007986
48 lingual thyroid 32 HP:0100029
49 subglottic hemangioma 32 HP:0410264

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
dandy-walker malformation
developmental delay
migraine headaches (ipsilateral to facial hemangioma)
more
Cardiovascular Vascular:
patent ductus arteriosus
arterial stenosis
anomalous branches of internal carotid artery
coarctation of the aorta
steal syndrome
more
Head And Neck Face:
facial hemangioma

Respiratory Larynx:
subglottic hemangioma

Abdomen External Features:
supraumbilical abdominal raphe

Head And Neck Eyes:
optic atrophy
optic nerve hypoplasia
congenital cataract
increased retinal vascularity
horner's syndrome
more
Cardiovascular Heart:
ventricular septal defect

Endocrine Features:
congenital hypothyroidism
lingual thyroid

Chest Ribs Sternum Clavicles And Scapulae:
sternal clefting
sternal pits

Skin Nails Hair Skin:
hemangioma, facial, plaque-like

Clinical features from OMIM:

606519

UMLS symptoms related to Phace Association:


seizures

Drugs & Therapeutics for Phace Association

Drugs for Phace Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
2 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
3 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756

Search NIH Clinical Center for Phace Association

Genetic Tests for Phace Association

Anatomical Context for Phace Association

MalaCards organs/tissues related to Phace Association:

41
Brain, Eye, Heart, Thyroid

Publications for Phace Association

Articles related to Phace Association:

(show all 29)
# Title Authors PMID Year
1
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. 8
21674285 2011
2
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. 8
20705698 2010
3
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. 8
19858157 2009
4
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. 8
16575892 2006
5
Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. 8
15006868 2004
6
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. 8
12116239 2002
7
The many faces of PHACE syndrome. 8
11445804 2001
8
Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review. 8
10678663 2000
9
PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. 8
10485544 1999
10
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. 8
8607636 1996
11
Sternal cleft associated with vascular anomalies and micrognathia. 8
8328853 1993
12
Aneurysm of the ascending aorta associated with sternal cleft, cutaneous hemangioma, and occlusion of the right innominate artery in a neonate. 8
3541557 1987
13
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. 8
740218 1978
14
Holmes heart and tetralogy of Fallot in association with PHACE. 38
29243304 2018
15
Enlargement of the Internal Auditory Canal and Associated Posterior Fossa Anomalies in PHACES Association. 38
26159514 2015
16
CT and MRI of congenital nasal lesions in syndromic conditions. 38
25573243 2015
17
Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. 38
26221546 2015
18
Rapid involuting congenital hemangioma in the setting of PHACE association. 38
24864173 2014
19
Growth hormone replacement in patients with PHACE association and hypopituitarism. 38
24602073 2014
20
Dural arteriovenous fistulae in pediatric patients: associated conditions and treatment outcomes. 38
22213835 2013
21
PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant. 38
22359528 2012
22
Role of Propranolol in the therapeutic strategy of infantile laryngotracheal hemangioma. 38
19481268 2009
23
PHACES association: a vasculocutaneous syndrome. 38
18427881 2008
24
PHACES association: a neuroradiologic review of 17 patients. 38
18223093 2008
25
Repair of aortic arch atresia with diffuse hypoplasia of the descending thoracic aorta. 38
18262428 2008
26
[Diagnostic image (362). A neonate with sternal malformation]. 38
18361192 2008
27
PHACES association. 38
17110221 2006
28
Hypopituitarism in PHACES Association. 38
17014646 2006
29
Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. 38
16510684 2006

Variations for Phace Association

ClinVar genetic disease variations for Phace Association:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 7:140476806-140476806 7:140777006-140777006

Expression for Phace Association

Search GEO for disease gene expression data for Phace Association.

Pathways for Phace Association

GO Terms for Phace Association

Sources for Phace Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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